1. The name of the genetic disease is Turner Syndrome
2. Symptoms of the disease for young infants are
Swollen hands and feet
Wide and webbed neck
for adults are
Absent or incomplete development at puberty, including sparse pubic hair and small breasts
Broad, flat chest shaped like a shield
Drooping eyelids
Dry eyes
Short height
Vaginal dryness, can lead to painful intercourse
3. When is the disease usually detected... at birth or later in life? This disease is detected at any stage of life. It only occurs to females. Sometimes its detected before birth when they see that a part of an x chromosome is missing.
4. Frequency of carriers of this disease in the population
5. Frequency of disease in the population
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? This disease is non-disjunction.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes? This disease has to do with the x chromosome.
8. What chromosome number has been determined to carry this gene? 45
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics. These treatments make turner syndrome noticeable.
10. What is the prognosis or outlook for your baby's recovery? My baby will die 10 years earlier =(
11. What future techniques might be used to correct or eliminate your baby's disease? There is none
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
13. Include diagrams of your child or factors related to your disease.
Baby 5
2. Symptoms of the disease for young infants are
- Swollen hands and feet
- Wide and webbed neck
for adults are3. When is the disease usually detected... at birth or later in life? This disease is detected at any stage of life. It only occurs to females. Sometimes its detected before birth when they see that a part of an x chromosome is missing.
4. Frequency of carriers of this disease in the population
5. Frequency of disease in the population
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? This disease is non-disjunction.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes? This disease has to do with the x chromosome.
8. What chromosome number has been determined to carry this gene? 45
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics. These treatments make turner syndrome noticeable.
10. What is the prognosis or outlook for your baby's recovery? My baby will die 10 years earlier =(
11. What future techniques might be used to correct or eliminate your baby's disease? There is none
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
13. Include diagrams of your child or factors related to your disease.
Baby 5